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MORM syndrome

Disease definition

A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.

ORPHA:75858

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q87.8
  • ICD-11: 9B70
  • OMIM: 610156
  • UMLS: C1857802
  • MeSH: C536984
  • GARD: 10121
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.